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Research paper
Nerve ultrasound depicts peripheral nerve enlargement in patients with genetically distinct Charcot-Marie-Tooth disease
  1. Yu-ichi Noto1,
  2. Kensuke Shiga2,
  3. Yukiko Tsuji1,
  4. Ikuko Mizuta1,
  5. Yujiro Higuchi3,
  6. Akihiro Hashiguchi3,
  7. Hiroshi Takashima3,
  8. Masanori Nakagawa4,
  9. Toshiki Mizuno1
  1. 1Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan
  2. 2Department of Medical Education and Primary Care, Graduate School of Medicine, Kyoto Prefectural University of Medicine, Kyoto, Japan
  3. 3Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan
  4. 4North Medical Center, Kyoto Prefectural University of Medicine, Kyoto, Japan
  1. Correspondence to Dr Yu-ichi Noto, Department of Neurology, Kyoto Prefectural University of Medicine Graduate School of Medical Science, 465 Kajii-cho, Kamigyo-ku, Kyoto 602-0841, Japan; y-noto{at}


Objective To elucidate the ultrasound (US) features of peripheral nerves including nerve roots in patients with different types of Charcot-Marie-Tooth disease (CMT), and the association between US findings, clinical features and parameters of nerve conduction studies (NCS) in CMT1A.

Methods US of median, sural and great auricular nerves and the C6 nerve root was performed in patients with CMT1A (n=20), MPZ-associated CMT (n=3), NEFL-associated CMT (n=4), EGR2-associated CMT (n=1), ARHGEF10-associated CMT (n=1) and in controls (n=30). In patients with CMT1A, we analysed the correlations between US findings and the following parameters: age, CMT Neuropathy Score (CMTNS) and NCS indices of the median nerve.

Results Cross-sectional areas (CSAs) of all the nerves were significantly increased in patients with CMT1A compared with that in controls. In MPZ-associated CMT, increased CSAs were found in the median nerve at wrist and in the great auricular nerve, whereas it was not increased in patients with NEFL-associated CMT. In patients with CMT1A, there was a positive correlation between CMTNS and the CSAs in the median nerves or great auricular nerves. In median nerves in patients with CMT1A, we found a negative correlation between the nerve conduction velocity and the CSA.

Conclusions Nerve US may aid in differentiating among the subtypes of CMT in combination with NCS. In CMT1A, the median nerve CSA correlates with the disease severity and peripheral nerve function.

  • Neuropathy
  • Ultrasound

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